Texas Children's raises awareness for rare diseases

February 28, 2018

This past Saturday, Feb. 24, hundreds of patients, family members, community advocates, health care providers and more joined Texas Children’s Hospital and Baylor College of Medicine to gather at The Health Museum in Houston, raising awareness for rare diseases in observance of the upcoming Rare Disease Day.

In the United States, a disease or disorder is defined as rare when it affects fewer than 200,000 people at any given time. If the impact of the nearly 7,000 existing rare diseases is combined, this means 1 in 10 individuals suffer from a rare disease. These figures don’t even include unreported cases. There is no cure for the majority of rare diseases out there, and many go undiagnosed.

Even though we represented different generations, ethnicities and cultures at this event, we connected in our shared experiences and knowledge of rare diseases.

For all of the patients who attended, it was highly unlikely that any of them shared the same diagnosis. In a lot of these cases, conditions are so rare that patients don’t even live in the same city or state as someone else with their shared diagnosis. But, just because their diagnoses and symptoms differed, didn’t mean the patients and families couldn’t connect through what it means to have a rare disease.

Patients of rare diseases and their loved ones often experience what is called a “diagnostic odyssey.” The patient could have one or more symptoms prompting a medical evaluation, and he/she will likely be seen by a number of specialists, undergoing several medical tests over a period of weeks, months or even years. Understandably, parents might feel frustrated, exhausted and unheard.

Our geneticists and genetic counselors at the Texas Children’s Genetics Clinic work together to diagnose, treat and support patients with rare diseases. Most primary care providers are trained to consider the most common cause of the patient’s exhibited symptom(s), while genetic specialists are trained to do the opposite by considering the most rare cause. When most hear hoof beats, they look for horses. When a genetic specialist hears hoof beats, they look for zebras.

When we’re able to provide a diagnosis and put a name to the patient’s long-endured symptoms, most of their parents will weep tears of joy and relief for the end of their diagnostic odyssey. They can use this name to learn more about their condition, and will be able to share this name with family members, friends, school nurses, doctors, and so on. These parents will often become advocates and educators for their child’s rare disease, and days like Rare Disease Day will continue to remind them they’re not alone.

Last weekend, we were able to give the stage to 35 rare disease organizations and provide information to many families in need. We provided several learning opportunities, including an “ask the expert” consultation with genetic specialists, a lecture on navigating the social security system and several discussions from patient advocacy groups. Many attendees and their families were still searching for their diagnosis, so representatives from testing laboratories and the Undiagnosed Disease Network were on hand to provide a variety of resources. We also can’t forget the National Organization for Rare Disorders (NORD), which had representatives pass out foam zebra toys in honor of the rare disease experience.

Join us today while you’re passing through Texas Children’s auxiliary bridge, where we’ll be showcasing multiple rare disease organizations and advocacy groups, alongside our own genetics clinic, to formally observe Rare Disease Day. This event is open to the public, so please stop by and see us. If you’d like to learn more about the Texas Children’s Genetics Clinic, click here.